Varaico: Literature-Extracted Genetic Variants

Gene:CTSH
Variant:p.C26S

CTSH

96 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, bo...

Pfam Domains

Inhibitor_I29aa 1–52UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 78–294UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin H

HGNC Previous Symbol

CPSB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_004390.5
p.C26S
c.76T>A
Surrounding Variants
4 papers
NM_004390.5
p.C26S
c.77G>C
1 paper
NM_004390.5
p.G21S
c.61G>A
1 paper
NM_004390.5
p.V17L
c.49G>C
1 paper
NM_004390.5
p.G11A
c.32G>C
1 paper
NM_004390.5
p.G11E
c.32G>A
1 paper
NM_004390.5
p.G11W
c.31G>T
2 papers
NM_004390.5
p.G11R
c.31G>C
2 papers
NM_004390.5
p.G11R
c.31G>A
1 paper
NM_004390.5
p.A3Fs
c.7delinsTGGTCFs
1 paper
NM_004390.5
p.M1T
c.2T>C
1 paper
NM_004390.5
p.K41_H42Splc
c.124-336G>A
1 paper
NM_004390.5
p.S47R
c.141T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."